Linked Data
ClinVar Variation Id:
42942
ClinVar RCV Id:
RCV000035835
RCV000246682
RCV000296884
RCV000324042
RCV000355361
RCV000354060
RCV000758058
RCV001094091
RCV001356126
RCV003320059
dbSNP Id:
rs7157716
ExAC:
14:23892888 A / G
gnomAD v2:
14-23892888-A-G
gnomAD v3:
14-23423679-A-G
gnomAD v4:
14-23423679-A-G
ERepo:
CA013242/MONDO:0004994/002
PubMed:
PMID:29300372
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423679A>G , CM000676.2:g.23423679A>G | GRCh38 |
| NC_000014.8:g.23892888A>G , CM000676.1:g.23892888A>G | GRCh37 |
| NC_000014.7:g.22962728A>G | NCBI36 |
| NG_007884.1:g.16983T>C , LRG_384:g.16983T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2967T>C MANE Select | ENSP00000347507.3:p.Ile989= | |
| ENST00000355349.3:c.2967T>C | ENSP00000347507.3:p.Ile989= | |
| NM_000257.3:c.2967T>C | NP_000248.2:p.Ile989= | |
| XR_245686.3:n.3073T>C | ||
| XM_017021340.1:c.2967T>C | XP_016876829.1:p.Ile989= | |
| NM_000257.4:c.2967T>C MANE Select | NP_000248.2:p.Ile989= |